Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.Y1374*
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SCN1A

NM_001165963.4:p.Y1374*

Associated Papers

An induced pluripotent stem cell line, NIMHi014-A, generated from PBMCs of an epileptic patient harbouring a variant of the SCN1A gene.

Nimonkar MM et al.

Stem Cell Research, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."